Overview
Nievergelt's syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Always present (100%)HP:0004322
Pes cavus
Always present (100%)HP:0001761
Sickled feet
Always present (100%)HP:0001840
Abnormal fibula morphology
Very frequent (80-99%)HP:0002991
Abnormal morphology of ulna
Very frequent (80-99%)HP:0040071
Abnormal tibia morphology
Very frequent (80-99%)HP:0002992
Absent/underdeveloped radius
Very frequent (80-99%)HP:0006501
Elbow dislocation
Very frequent (80-99%)HP:0003042
Fused forearm bones
Very frequent (80-99%)HP:0002974
Genu valga
Very frequent (80-99%)HP:0002857
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Mesomelia
Very frequent (80-99%)HP:0003027
Micromelia
Very frequent (80-99%)HP:0002983
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Short stature, mesomelic
Very frequent (80-99%)HP:0008845
Skin dimples
Very frequent (80-99%)HP:0010781
Tarsal bone synostosis
Very frequent (80-99%)HP:0008368
Abnormality of the wrist
Occasional (5-29%)HP:0003019
Bilateral single transverse palmar creases
Occasional (5-29%)HP:0007598
Dolichocephaly
Occasional (5-29%)HP:0000268
Genua vara
Occasional (5-29%)HP:0002970
Large facies
Occasional (5-29%)HP:0100729
Nonprogressive mental retardation
Occasional (5-29%)HP:0001249
Partial syndactyly
Occasional (5-29%)HP:0006101
Permanent curving of the pinkie finger
Occasional (5-29%)HP:0004209
Sacral dimple
Occasional (5-29%)HP:0000960
Scoliosis
Occasional (5-29%)HP:0002650
Short and broad skull
Occasional (5-29%)HP:0000248
Squint
Occasional (5-29%)HP:0000486
Anomaly of the face
Excluded (<1%)HP:0000271
Related Conditions
Multiple malformation syndrome with limb defect as major feature(parent)
Mesomelic dysplasia(parent)
Autosomal dominant hereditary disorder(parent)
Developmental hereditary disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital abnormal shape of fibula(parent)
Congenital abnormal shape of tibia(parent)
Quick Facts
- SNOMED CT
- 33979003
- UMLS CUI
- C0432231
- Fully Specified Name
- Nievergelt's syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.